Managing hyperinsulinism and panhypopituitarism

Only a few people worldwide have been born with both hyperinsulinism and panhypopituitarism. Charlotte was one of them. Her mum Gill talks about managing such a rare and complex condition.

“Charlotte was born just after midnight at Watford General Hospital. When you have a second child you can’t help compare them. Charlotte was much sleepier than her sister. The following day we had lots of visitors and I couldn’t believe how quiet and undemanding she was - it was wonderful.

“That evening I asked for a midwife to sit with Charlotte while I popped to the loo. Everyone was busy so I left her, just for two minutes. When I came back, she’d stopped breathing. I picked her up and she felt like a dead weight. I ran up the corridor screaming that my baby was dead. Within seconds 20 people were there, they whisked Charlotte away to the resuscitation room. I was dragged kicking and screaming to my bed.

“After what seemed like a lifetime, a young doctor told me he’d massaged Charlotte’s heart and brought her back.”

Testing time

“Charlotte was taken to the Intensive Care Unit (ICU). No one knew what was wrong with her. Her blood sugars were low so they pumped her with dextrose, but her sugars kept dropping and she was constantly fitting.

“So began the endless process of testing. Each week would bring a new test and we’d eagerly await the results, hoping it would give us some answers. But nothing.

“Charlotte went to Queen Charlotte’s Hospital for more tests. The ambulance had to stop three times because she was fitting. The hospital were confident that they could tell us what was going on, but still Charlotte confused them.

“Two weeks later a bed became available on Rainforest Ward at Great Ormond Street Hospital (GOSH). On Charlotte’s first night we got a call at 2am to come in to GOSH - Charlotte’s blood sugar levels had fallen dangerously low, and there wasn’t anywhere left on Charlotte’s tiny body to cannulate. They needed our permission to put a huge needle into the bone in her leg to give her dextrose. It was horrendous.”

Diagnosis

“After several days we were introduced to Professor Dattani and Dr Hussain who confirmed that Charlotte’s problems were endocrine and they would be taking over Charlotte’s care.

“Charlotte was one of only a few people in the world to have hyperinsulinism, where the pancreas doesn’t secrete the correct amount of insulin, affecting the level of glucose in the blood; and panhypopituitarism, where the pituitary gland doesn’t release enough hormones.

“Charlotte had to go through lots more testing to get the medication right for both conditions - it took two weeks before the diagnosis and treatment plan were finally put in place.“

Managing the condition

“Claire Gilbert, Clinical Nurse Specialist (CNS), talked us through hyperinsulinism and how to care for Charlotte at home. We needed to feed Charlotte through a naso-gastric (NG) tube and test her blood sugar levels every two to four hours. She had to take two drugs (diazoxide and chlorothiazide) to help her maintain good sugar levels.

“Another CNS, Shirley Langham, talked to us about panhypopituitarism and how this would affect Charlotte’s life. There would be times when she was very vulnerable, particularly if she got poorly. She would be dependent on taking medication for the rest of her life.

“The consultants and nurses were so patient. They spent hours going over it with us and answering our questions. It all sounded so complicated and the thought of bringing Charlotte home was terrifying.”

Coping at home

“After being discharged from GOSH we spent a week back at Watford trying to get to grips with managing Charlotte’s care. At this time it began to dawn on us that this would be a full-time job.

“Charlotte’s blood sugar levels were often low so that we had to keep contacting GOSH so they could adjust her medication.

“She also kept pulling her NG tube out, sometimes twice a day. We had to go to Watford or get a community nurse to visit us - they’d swaddle her and pass the line again. It was distressing. In the end my husband had training so that he could replace it at home.“

Growth hormone

“After Charlotte’s first birthday, the team at GOSH decided we should start giving her growth hormone by injection. (Charlotte was so small that she barely registered on the graph in her red book!). A team came to train us. It was horrible at first but we quickly got used to it. We already had to prick Charlotte’s fingers and toes for blood tests about 10 times a day.

“Charlotte went from having two to three hypos a day to none at all and we hoped she might have grown out of hyperinsulinism. This would mean she could stop taking diazoxide, which blocks the release of insulin. As a side-effect, it turned Charlotte very hairy. She had hair on her forehead and down her back. At the time we didn’t care, it was the least of our worries. But looking back it was a real relief when it eventually fell out. A 24-hour test at GOSH confirmed Charlotte had outgrown hyperinsulinism - sooner than expected - and we gradually took her off the diazoxide.

“It was a real turning point for us. We also decided to remove her NG tube - Charlotte was eating more food, the growth hormone was giving her muscle definition and at 19 months old she started walking. She would stand up by sort of doing the splits, then toddle off. I’ll never forget it - it was wonderful.”

Trusting others

“When Charlotte started pre-school and then primary, it was difficult handing over her care and entrusting them to manage her medication. I had to learn to trust other people with my precious daughter. We did all the training ourselves and the schools have been brilliant.

“If Charlotte’s body has a shock - for example, if she gets ill or has a fall - she can have an adrenal crisis because her body doesn’t have enough cortisol to cope with the stress. We always carry an emergency kit, which contains an injection of cortisol. Charlotte’s school has an emergency plan that it follows, and the local paramedic are fully briefed.

“Each family finds their own way to deal with their child’s medical conditions. We’ve tried not to let Charlotte think she is special because of her condition as we want her to have a normal life. She doesn’t get special treatment - she has to wait her turn just like her sister, and other children.

“It can be lonely having a child with such a rare condition. I want to be able to talk to other parents who have been through the same things. It would be nice to meet someone 10 years older than Charlotte with the same condition who’s a few steps ahead and managing their own medication. There are so many unanswered questions. But we’ve never met anyone in the same situation.”

Visiting GOSH

“Charlotte’s now five and she returns to GOSH every six to nine months. We’ve been working with a child psychologist, Sharon, to help Charlotte cope with being in hospital. Charlotte can’t bear having a cannula or blood tests. We’ve created a princess sticker chart and she chooses what music she’d like to listen to, which hand she wants the cannula to go in and so on. This gives her some kind of control.“

Going on holiday

“Last year we took a big step to go on holiday to Mallorca. I flew out in advance to check out the local hospital and Abigail Atterbury, our specialist nurse, contacted them to set it all up for us. She organised for our emergency plan to be translated into Spanish, sorted out travel insurance and customs. GOSH was wonderful - they want us to have the freedom to enjoy a good quality of life. It was completely out of my comfort zone - just leaving Hertfordshire is difficult enough - but it was amazing to see Charlotte enjoy it so much.”

The future

“We know Charlotte inside out. She’s so complex yet so normal. She loves princesses, tennis, and dancing. She has a normal life day to day but we know that one minute she could be fine, the next not.

“Charlotte had such a scary start but she’s come out the other side. We were told she may have brain damage, could be blind, might have autism - but look at her now. She’s doing so well. We feel positive for the future for Charlotte. She has a very determined personality and I think this will help her in life. When they grow up, I can just imagine her sister, Bethany, will be home every Sunday for lunch, while Charlotte will be backpacking around India.”